Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29621 | 89086;89087;89088 | chr2:178554486;178554485;178554484 | chr2:179419213;179419212;179419211 |
| N2AB | 27980 | 84163;84164;84165 | chr2:178554486;178554485;178554484 | chr2:179419213;179419212;179419211 |
| N2A | 27053 | 81382;81383;81384 | chr2:178554486;178554485;178554484 | chr2:179419213;179419212;179419211 |
| N2B | 20556 | 61891;61892;61893 | chr2:178554486;178554485;178554484 | chr2:179419213;179419212;179419211 |
| Novex-1 | 20681 | 62266;62267;62268 | chr2:178554486;178554485;178554484 | chr2:179419213;179419212;179419211 |
| Novex-2 | 20748 | 62467;62468;62469 | chr2:178554486;178554485;178554484 | chr2:179419213;179419212;179419211 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.953 | N | 0.539 | 0.298 | 0.440394187108 | gnomAD-4.0.0 | 6.84343E-07 | None | None | None | None | N | None | 2.98721E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | rs750981091  |
-0.772 | 0.06 | D | 0.388 | 0.105 | 0.374255764437 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| E/D | rs750981091 |
-0.772 | 0.06 | D | 0.388 | 0.105 | 0.374255764437 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/D | rs750981091 |
-0.772 | 0.06 | D | 0.388 | 0.105 | 0.374255764437 | gnomAD-4.0.0 | 1.9213E-05 | None | None | None | None | N | None | 0 | 5.00083E-05 | None | 0 | 0 | None | 0 | 0 | 2.11911E-05 | 0 | 4.804E-05 |
| E/G | rs1559228678 |
None | 0.953 | N | 0.637 | 0.356 | 0.491523185611 | gnomAD-4.0.0 | 6.84343E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52781E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/V | None | None | 0.993 | N | 0.665 | 0.376 | 0.57179433898 | gnomAD-4.0.0 | 6.84343E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09555E-06 | 0 | 1.65711E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2291 | likely_benign | 0.2346 | benign | -0.616 | Destabilizing | 0.953 | D | 0.539 | neutral | N | 0.501084332 | None | None | N |
| E/C | 0.8471 | likely_pathogenic | 0.8408 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.65 | prob.neutral | None | None | None | None | N |
| E/D | 0.2229 | likely_benign | 0.2161 | benign | -0.91 | Destabilizing | 0.06 | N | 0.388 | neutral | D | 0.528245583 | None | None | N |
| E/F | 0.7396 | likely_pathogenic | 0.756 | pathogenic | 0.295 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/G | 0.4446 | ambiguous | 0.4445 | ambiguous | -1.022 | Destabilizing | 0.953 | D | 0.637 | neutral | N | 0.514468554 | None | None | N |
| E/H | 0.6167 | likely_pathogenic | 0.6152 | pathogenic | 0.197 | Stabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| E/I | 0.2782 | likely_benign | 0.2872 | benign | 0.503 | Stabilizing | 0.995 | D | 0.712 | prob.delet. | None | None | None | None | N |
| E/K | 0.3596 | ambiguous | 0.3615 | ambiguous | -0.241 | Destabilizing | 0.214 | N | 0.484 | neutral | N | 0.499527396 | None | None | N |
| E/L | 0.3214 | likely_benign | 0.335 | benign | 0.503 | Stabilizing | 0.99 | D | 0.661 | prob.neutral | None | None | None | None | N |
| E/M | 0.4307 | ambiguous | 0.434 | ambiguous | 0.823 | Stabilizing | 1.0 | D | 0.691 | prob.delet. | None | None | None | None | N |
| E/N | 0.4505 | ambiguous | 0.4406 | ambiguous | -0.973 | Destabilizing | 0.99 | D | 0.583 | neutral | None | None | None | None | N |
| E/P | 0.6972 | likely_pathogenic | 0.6784 | pathogenic | 0.152 | Stabilizing | 0.995 | D | 0.589 | neutral | None | None | None | None | N |
| E/Q | 0.1933 | likely_benign | 0.2001 | benign | -0.783 | Destabilizing | 0.986 | D | 0.6 | neutral | N | 0.517721945 | None | None | N |
| E/R | 0.5157 | ambiguous | 0.5269 | ambiguous | 0.116 | Stabilizing | 0.979 | D | 0.575 | neutral | None | None | None | None | N |
| E/S | 0.3525 | ambiguous | 0.3535 | ambiguous | -1.286 | Destabilizing | 0.964 | D | 0.514 | neutral | None | None | None | None | N |
| E/T | 0.2788 | likely_benign | 0.2748 | benign | -0.927 | Destabilizing | 0.995 | D | 0.596 | neutral | None | None | None | None | N |
| E/V | 0.1623 | likely_benign | 0.1657 | benign | 0.152 | Stabilizing | 0.993 | D | 0.665 | prob.neutral | N | 0.489843385 | None | None | N |
| E/W | 0.9325 | likely_pathogenic | 0.9371 | pathogenic | 0.639 | Stabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| E/Y | 0.6919 | likely_pathogenic | 0.7011 | pathogenic | 0.607 | Stabilizing | 0.998 | D | 0.701 | prob.delet. | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.